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Results: 1 to 20 of 165

1.

A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.

Hu J, Sathanoori M, Kochmar S, Azage M, Mann S, Madan-Khetarpal S, Goldstein A, Surti U.

Am J Med Genet A. 2015 Apr 10. doi: 10.1002/ajmg.a.37110. [Epub ahead of print]

PMID:
25866352
2.

Chronic lymphocytic leukemia/small lymphocytic lymphoma: another neoplasm related to the B-cell follicle?

Tandon B, Swerdlow SH, Hasserjian RP, Surti U, Gibson SE.

Leuk Lymphoma. 2015 May 26:1-9. [Epub ahead of print]

PMID:
25860247
3.

Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.

Beck M, Peterson JF, McConnell J, McGuire M, Asato M, Losee JE, Surti U, Madan-Khetarpal S, Rajkovic A, Yatsenko SA.

Am J Med Genet A. 2015 May;167A(5):1047-53. doi: 10.1002/ajmg.a.36839. Epub 2015 Mar 21.

PMID:
25810350
4.

MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.

Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A.

Am J Hum Genet. 2014 Dec 4;95(6):754-62. doi: 10.1016/j.ajhg.2014.11.002.

5.

Recent advances of genomic testing in perinatal medicine.

Peters DG, Yatsenko SA, Surti U, Rajkovic A.

Semin Perinatol. 2015 Feb;39(1):44-54. doi: 10.1053/j.semperi.2014.10.009. Epub 2014 Nov 28.

PMID:
25444417
6.

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.

AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A.

J Clin Invest. 2015 Jan;125(1):258-62. doi: 10.1172/JCI78473. Epub 2014 Dec 1.

7.

Resolving the complexity of the human genome using single-molecule sequencing.

Chaisson MJ, Huddleston J, Dennis MY, Sudmant PH, Malig M, Hormozdiari F, Antonacci F, Surti U, Sandstrom R, Boitano M, Landolin JM, Stamatoyannopoulos JA, Hunkapiller MW, Korlach J, Eichler EE.

Nature. 2015 Jan 29;517(7536):608-11. doi: 10.1038/nature13907. Epub 2014 Nov 10.

PMID:
25383537
8.

Single haplotype assembly of the human genome from a hydatidiform mole.

Steinberg KM, Schneider VA, Graves-Lindsay TA, Fulton RS, Agarwala R, Huddleston J, Shiryev SA, Morgulis A, Surti U, Warren WC, Church DM, Eichler EE, Wilson RK.

Genome Res. 2014 Dec;24(12):2066-76. doi: 10.1101/gr.180893.114. Epub 2014 Nov 4.

9.

Large B-cell lymphoma of the base of the tongue and oral cavity: a practical approach to identifying prognostically important subtypes.

Owosho AA, Bilodeau EA, Surti U, Craig FE.

Oral Surg Oral Med Oral Pathol Oral Radiol. 2014 Sep;118(3):338-47. doi: 10.1016/j.oooo.2014.06.002. Epub 2014 Jun 14.

PMID:
25151588
10.

Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

Nguyen NM, Zhang L, Reddy R, Déry C, Arseneau J, Cheung A, Surti U, Hoffner L, Seoud M, Zaatari G, Bagga R, Srinivasan R, Coullin P, Ao A, Slim R.

J Med Genet. 2014 Sep;51(9):623-34. doi: 10.1136/jmedgenet-2014-102546. Epub 2014 Aug 5.

PMID:
25097207
11.

Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

Peterson JF, Ghaloul-Gonzalez L, Madan-Khetarpal S, Hartman J, Surti U, Rajkovic A, Yatsenko SA.

Am J Med Genet A. 2014 Feb;164A(2):364-9. doi: 10.1002/ajmg.a.36238.

PMID:
24592505
12.

Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster.

Peterson JF, Hartman J, Ghaloul-Gonzalez L, Surti U, Hu J.

Am J Med Genet A. 2014 Mar;164A(3):810-4. doi: 10.1002/ajmg.a.36359. Epub 2014 Jan 17.

PMID:
24443387
13.

Whole-genome single nucleotide polymorphism array analysis is complementary to classical cytogenetic analysis in the evaluation of lymphoid proliferations.

Gibson SE, Luo J, Sathanoori M, Liao J, Surti U, Swerdlow SH.

Am J Clin Pathol. 2014 Feb;141(2):247-55. doi: 10.1309/AJCPRHGHT28DUWLA.

14.

Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene.

Peterson JF, Thakur P, Peffer A, Kolthoff M, Kochmar SJ, Surti U.

J Assoc Genet Technol. 2014;40(1):16-21.

PMID:
26030165
16.

Intestinal γδ T-cell lymphomas are most frequently of type II enteropathy-associated T-cell type.

Wilson AL, Swerdlow SH, Przybylski GK, Surti U, Choi JK, Campo E, Trucco MM, Van Oss SB, Felgar RE.

Hum Pathol. 2013 Jun;44(6):1131-45. doi: 10.1016/j.humpath.2012.10.002. Epub 2013 Jan 17.

17.

Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.

Hu J, Sathanoori M, Kochmar S, Madan-Khetarpal S, McGuire M, Surti U.

Am J Med Genet A. 2013 Jan;161A(1):179-84. doi: 10.1002/ajmg.a.35658. Epub 2012 Dec 7.

PMID:
23225375
18.

Application of chromosomal microarray in the evaluation of abnormal prenatal findings.

Yatsenko SA, Davis S, Hendrix NW, Surti U, Emery S, Canavan T, Speer P, Hill L, Clemens M, Rajkovic A.

Clin Genet. 2013 Jul;84(1):47-54. doi: 10.1111/cge.12027. Epub 2012 Nov 4.

PMID:
23020214
19.

Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype.

Liao J, Sathanoori M, Yatsenko SA, Hu J, Kochmar SJ, Hoffner L, Hogge WA, Surti U.

Prenat Diagn. 2012 Dec;32(12):1166-9. doi: 10.1002/pd.3977. Epub 2012 Sep 26.

PMID:
23015528
20.

Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease.

Bunce K, Chu T, Surti U, Hogge WA, Peters DG.

Prenat Diagn. 2012 Jun;32(6):542-9. doi: 10.1002/pd.3853. Epub 2012 Apr 11.

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